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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-65974701-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=65974701&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 65974701,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_000181.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357*",
"transcript": "NM_000181.4",
"protein_id": "NP_000172.2",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 651,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304895.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000181.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357*",
"transcript": "ENST00000304895.9",
"protein_id": "ENSP00000302728.4",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 651,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000181.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304895.9"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1153C>T",
"hgvs_p": "p.Arg385*",
"transcript": "ENST00000864783.1",
"protein_id": "ENSP00000534842.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 679,
"cds_start": 1153,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864783.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1132C>T",
"hgvs_p": "p.Arg378*",
"transcript": "ENST00000864792.1",
"protein_id": "ENSP00000534851.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 661,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864792.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1096C>T",
"hgvs_p": "p.Arg366*",
"transcript": "ENST00000864788.1",
"protein_id": "ENSP00000534847.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 660,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864788.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357*",
"transcript": "ENST00000912577.1",
"protein_id": "ENSP00000582636.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 658,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912577.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1066C>T",
"hgvs_p": "p.Arg356*",
"transcript": "ENST00000864780.1",
"protein_id": "ENSP00000534839.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 650,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864780.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357*",
"transcript": "ENST00000864778.1",
"protein_id": "ENSP00000534837.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 640,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864778.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1018C>T",
"hgvs_p": "p.Arg340*",
"transcript": "ENST00000864798.1",
"protein_id": "ENSP00000534857.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 634,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864798.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1000C>T",
"hgvs_p": "p.Arg334*",
"transcript": "ENST00000864777.1",
"protein_id": "ENSP00000534836.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 628,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864777.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1000C>T",
"hgvs_p": "p.Arg334*",
"transcript": "ENST00000864790.1",
"protein_id": "ENSP00000534849.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 628,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864790.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331*",
"transcript": "ENST00000864786.1",
"protein_id": "ENSP00000534845.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 625,
"cds_start": 991,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864786.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357*",
"transcript": "ENST00000864785.1",
"protein_id": "ENSP00000534844.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 612,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864785.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.916C>T",
"hgvs_p": "p.Arg306*",
"transcript": "ENST00000912575.1",
"protein_id": "ENSP00000582634.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 607,
"cds_start": 916,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912575.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.922C>T",
"hgvs_p": "p.Arg308*",
"transcript": "ENST00000912576.1",
"protein_id": "ENSP00000582635.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 602,
"cds_start": 922,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912576.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.916C>T",
"hgvs_p": "p.Arg306*",
"transcript": "ENST00000864776.1",
"protein_id": "ENSP00000534835.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 600,
"cds_start": 916,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864776.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305*",
"transcript": "ENST00000912572.1",
"protein_id": "ENSP00000582631.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 599,
"cds_start": 913,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912572.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305*",
"transcript": "ENST00000952458.1",
"protein_id": "ENSP00000622517.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 599,
"cds_start": 913,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952458.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357*",
"transcript": "ENST00000864781.1",
"protein_id": "ENSP00000534840.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 592,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864781.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.916C>T",
"hgvs_p": "p.Arg306*",
"transcript": "ENST00000864782.1",
"protein_id": "ENSP00000534841.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 589,
"cds_start": 916,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864782.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289*",
"transcript": "ENST00000912571.1",
"protein_id": "ENSP00000582630.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 583,
"cds_start": 865,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912571.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Arg283*",
"transcript": "ENST00000864797.1",
"protein_id": "ENSP00000534856.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 577,
"cds_start": 847,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864797.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
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"clinvar_disease": "Mucopolysaccharidosis type 7,Non-immune hydrops fetalis,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:2",
"phenotype_combined": "Mucopolysaccharidosis type 7|Non-immune hydrops fetalis|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}